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Summary of the impact

The Genomics Policy Unit (GPU) has led on research into genetics and
health since 1996, and has made a significant contribution to this field
at both a national and international level. As one of the first Research
Units in the UK to focus on the preparedness of the public and healthcare
professionals for the `new genetics', we recognised how genetic advances
would radically alter how we understand health and disease. The impact of
our research has been to show audiences who would not typically engage
with genetics, what new opportunities are being offered to improve human
health and the social and ethical issues that surround these.

The GPU was an early pioneer of new, interactive research methods, such
as Citizens' Juries, to help ordinary people make their views known to
policy makers. By 2003 we were engaging nurses and midwives with genetics
by supporting them in developing competent practice, setting a benchmark
that has influenced competency development programmes for nurses in the
UK, Europe and the US. This is important because advances in genetics mean
it is moving out of its specialist sphere into wider clinical practice and
broader society. This case study describes the two strands of our work —
professional and public engagement — and illustrates the significant
impact that exposure to genetics has had on ordinary members of the public
when they are given the opportunity to acquire genetic literacy and on the
nursing profession by contributing to policy and education in this field.

Submitting Institution

University of South Wales

Unit of Assessment

Allied Health Professions, Dentistry, Nursing and Pharmacy

Summary Impact Type

Societal

Research Subject Area(s)

Medical and Health Sciences: Nursing, Public Health and Health Services

Summary of the impact

Impact: Economic: Genomic selection has revolutionised, and is now
standard practice, in the major dairy cattle, pig and chicken breeding
programmes, worldwide and provides multiple quantifiable benefits to
breeders, producers, consumers and animals.

Research Subject Area(s)

Summary of the impact

The International HapMap project was a major international research
collaboration to map the structure of common human genetic variation
across populations from Europe, Asia and Africa. Mathematical Scientists
from the University of Oxford played key roles in the development of
statistical methods for the project, along with its overall design and
management of the International HapMap Project.

Companies have used HapMap as the primary resource to design genome-wide
microarrays to make novel discoveries in, for example, pharmacogenetic
studies. The size of this market is estimated at $1.25 billion.

One novel discovery has led to a genetic test that is predictive of
sustained viral suppression in patients treated for chronic hepatitis C.
An estimated 2.7 to 3.9 million people are affected by HCV infection. This
test is sold commercially by the company LabCorp and is a significant
contributor to the company's testing volume. Finally, the project has been
important in widening the public understanding of genetic variation.

Submitting Institution

University of Oxford

Unit of Assessment

Mathematical Sciences

Summary Impact Type

Technological

Research Subject Area(s)

Summary of the impact

Cytomegalovirus (CMV) causes life-threatening disease, particularly in
immunocompromised individuals. CMV antivirals are toxic and before 2010
there was no standard for quantifying patients' viral load to enable
precise use of these drugs. Research at Cardiff University led to the
isolation and characterisation of wild-type CMV strain Merlin. The strain
was recognised by the WHO in 2010 as the best source of the CMV genome and
adopted as the international prototype strain and PCR standard. All major
pharmaceutical companies offering CMV testing swiftly recalibrated their
kits, and now market the assays as standardised against the strain. As a
consequence, the Standard is improving clinical CMV disease definition and
regulation of antiviral therapy, aiding the management of toxicity and
resistance worldwide.

Submitting Institution

Cardiff University

Unit of Assessment

Biological Sciences

Summary Impact Type

Health

Research Subject Area(s)

Summary of the impact

Research carried out by the University of Southampton into the genetic
causes of diseases, and the gene mapping techniques and applications
derived from this research, has benefited patients worldwide through
improved prediction, diagnosis and treatment for common diseases with a
complex genetic basis. A particularly striking example is age-related
macular degeneration which is a common cause of blindness. Commercially,
the research provides cost-effective strategies for genotyping DNA
samples, and marker-based selection strategies for economically relevant
animal species, such as cattle. The work underpins the development of the
personal genomics industry, which specialises in individual genetic risk
profiling.

Submitting Institution

University of Southampton

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Summary of the impact

The wheat-breeding industry, including some of the largest plant breeders
and seed-development companies in the world, has benefited from decreased
production costs and increased productivity as a result of research led by
the University of Bristol and carried out between 2009 and 2011. The
Bristol researchers developed the tools necessary to differentiate point
mutations in the complex DNA structure of wheat. This was a critical step
in wheat genotyping and led to the public release of 95% of the wheat
genome in 2010 and the development, by Bristol, of a cheap, easy-to-use
assay for industry. These advances were quickly embraced by industrial
wheat breeders aiming to deliver new varieties of wheat with improved
yields and desirable traits such as disease resistance. Limagrain, the
world's fifth-largest producer of field seeds (including wheat) with €595
million in sales of seeds, realised a ten-fold reduction in costs and
a ten-fold increase in throughputs in their breeding laboratory.
With the wheat-seed business worth over £16 million annually in the UK and
over £1.8 billion globally, the new genotyping tools generated by Bristol
have had, and continue to have, a major impact on the wheat industry and
its ability to respond to the challenges of climate change and population
growth.

Submitting Institution

University of Bristol

Unit of Assessment

Biological Sciences

Summary Impact Type

Technological

Research Subject Area(s)

Biological Sciences: GeneticsAgricultural and Veterinary Sciences: Crop and Pasture Production

Summary of the impact

In genetic studies of human disease it is now routine for studies to
collect genetic data on
thousands of individuals with and without a particular disease. However,
the genetic data collected
is incomplete, with many millions of sites of the genome unmeasured. The
novel methods and
software (IMPUTE) developed by researchers at the University of Oxford
predict unobserved
genetic data using reference datasets.

IMPUTE has been adopted by the company Affymetrix in the design of custom
genotyping chips.
Affymetrix recently won the tenders by the UK Biobank and UKBiLEVE studies
to genotype
>500,000 participants, with a total study cost of ~£25M. The company
states that IMPUTE gave
their project bid a significant competitive advantage. Affymetrix also
purchased the IMPUTE source
code for £250,000. In addition, Roche Pharmaceuticals have used the
software in their research on
the genetic basis of drug response. The use of imputation has saved Roche
~$1,000,000.

Summary of the impact

Automation of genomic data analysis has become essential. High-throughput
sequencing technologies are producing data faster than can be managed and
interpreted, meaning that much biomedical information remains unused.

Research led by Attwood introduced a unique method for protein sequence
characterisation and a derived database of diagnostic protein signatures
(PRINTS). This led directly to the development of a new database
(InterPro), now routinely used to annotate the world's largest protein
sequence archive (UniProt), and complete genomes and metagenomes. The
databases and their search tools have been exploited in the private sector
(including SMEs and multi-national pharmaceutical and agrichemical
companies), generating workflows that have yielded candidate drug targets
and provided insights into disease mechanisms.

Summary of the impact

Dr Brettschneider and collaborators proposed a conceptual framework for high-dimensional gene
expression data quality assessment (QA) and developed a QA statistical toolbox tailored to short
oligonucleotide microarray technology. The work has deepened understanding of sources of
variation and has helped in removing noise and bias in microarray data sets. This has accelerated
the invention of clinical instruments for molecular cancer diagnosis/prognosis. The toolbox has
been applied widely, leading to impact through:

Summary of the impact

NHS: Implementation in all 1043 general practices, 38
hospitals, and 14 Health Boards in Scotland, continuously monitoring
care of 271,000 people with diabetes, with evidence of improved clinical
outcomes.

Government Policy: Embedded in Government policy: Scottish
Diabetes Framework, Scottish Diabetes Action Plan; highlighted as "best
practice" in the 2009 House of Lords Report Genomic Medicine and
UK Life Sciences Strategy 2012.

Commercialisation: A start up informatics company, now with 82
employees and deployments internationally.

Internationalisation: Implementation of the informatics network
through the Kuwait-Scotland eHealth innovation network.